title: Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
authors.affiliation: MGC Department of Human Genetics and Clinical Genetic Center, Leiden University, The Netherlands.
authors.forename: P P
authors.initials: PP
authors.lastname: Deutz-Terlouw
authors.forename: M
authors.initials: M
authors.lastname: Losekoot
authors.forename: C M
authors.initials: CM
authors.lastname: Aalfs
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: E
authors.initials: E
authors.lastname: Bakker
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011505:Protein-Tyrosine Kinases / Q000378:metabolism*; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics* / Q000378:metabolism
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D004247:DNA; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3